Topics

Question on the genetic testing of the sibling/carrier yes or no?
Hello, we have a child with CF, as mutation deltaF508 homozygously has been detected. A genetic testing of us parents revealed, that my husband, as well as me are carriers of the deltaF508. Now a genetic testing of our second child had been initiated. CF had been excluded via sweat test. The genetic testing stated that the familial mutation in the CFTR-gene has not been detected in this child. A broader investigation testing furhter mutations in the CFTR-gene could not be justified in case of the familial constellation. Now my question: can we assume that our healthy child is either not a carrier of CF or would it be theoretically possible, that this child carries another mutation as a carrier for CF? I am very glad about an answer and thank you already in advance.
15.07.2013
Septic tank
Hello, we have a house with a septic tank so I can not put bleach every day in the lines. I want to know what can I use to disinfect instead of the bleach, everyday? Thank you
15.07.2013
Anti-reflux
Hello. We have a child who has cystic fibrosis and we would like to know if the anti-reflux medications, from a general point of view, were unsuitable for them? I'm not an expert but it seems to me that these drugs are designed with the aim to "stuff" and therefore they could harm the liquefaction? Thank you.
15.07.2013
Disease severity degree
Hello, my 2-year-old CF daughter requires since birth very intensive care. The disease leaves her no lull. Today I am very worried about her life expectancy ... What are the criteria for severity of the illness? Are there still children who die young? Thank you in advance for your answer to this dark question ...
15.07.2013
newborn with Del f508 and 5T-TG12
Hello My baby boy was screened in California and tested positive for Del F508 and 5T-TG12 variant. His initial sweat test was 20 at 5 weeks of age. Therefore, he is not classified as CF but will be monitored throughout his life. I understand his mutations can put him into a healthy or mildly sick group depending on the amount of working mRNA. Questions: 1. Are there any tests that can determine whether his combinations will affect his CFTR function? At what age? 2. At what age can we find out whether he is infertile? 3. Do all people with this combination have symptoms or some are completely healthy? How many have only infertility, and how many show lung issues? 4. What is MILD CF? How does it express? I understand this combination probably won't cause pancreatic problems, but mostly lung issues. Is that correct?
15.07.2013
Echogenic bowel
Since the 24th week of pregnancy, our unborn first child has had an echogenic bowel. After infections were ruled out, and chromosomal aberrations, bleedings and placentar insufficiency were regarded as very unlikely, we had our blood tested for any CF mutations. My husband was found to have dF508, and I R1162X. It is now week 33, the bowel is still echogenic but not dilated. How high would you presume the chances of the child not having CF to be? We are aware of the 25% chance of CF just because of our mutations, but how high is the probability of CF knowing the child has an echogenic bowel? Thank you very much!
15.07.2013
change doctor
Hello, I am the mother of a 4.5 year-old little girl. We got to know that my daughter has CF; she has to take treatment. She is followed up at a female physician X but the concern is that I don’t get along well with her doctor. She speaks to me badly and reproaches that I do not care for my daughter because she has a language delay. Does she have the right to talk to me like that? Can I change my doctor? Thank you for giving me an answer because I admit that I had stomachache every time I see her.
15.07.2013
Wood granule sealed stove
We have a son who has CF. We plan to buy a wood granule sealed stove. What do you think about this choice? I would like to get a medical advice, thank you.
15.07.2013
Diagnosis
Hello, our son was born via cesarian section due to fetal ascites in case of meconium peritonitis due to meconium ileus and volvulus. The genetic investigation showed a mutation in exon 10 of the CFTR gen c 1521_1523del (p.Phe508del) and in intron 10 of the CFTR gene c1585-1G>A (c1717-1G>A) heterozygous. Are there any experience reports in case of such a course about the ongoing course and the prognosis? Until now everything went actually without complications, he was born in the 35th week of gestation and had not to be intubated, also he tolerated well the operation, only the enteral feeding was problematic (slowly with mothermilk).
15.07.2013
Flight duration
I had 2.5 years ago a pneumothorax, can I nevertheless go on an 11-hours flight without fear?
15.07.2013
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